|
1
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000384)
|
Preauricular skin tag |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
4
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
5
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
6
|
(HPO:0001140)
|
Epibulbar dermoid |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0001539)
|
Omphalocele |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
8
|
(HPO:0001562)
|
Oligohydramnios |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
10
|
(HPO:0001743)
|
Abnormality of the spleen |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
11
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
12
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
13
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0002815)
|
Abnormality of the knee |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
16
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
17
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
20
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Very frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
21
|
(HPO:0100542)
|
Abnormal localization of kidney |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
22
|
(HPO:0000130)
|
Abnormality of the uterus |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
23
|
(HPO:0004378)
|
Abnormality of the anus |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
24
|
(HPO:0010305)
|
Absence of the sacrum |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
25
|
(HPO:0002023)
|
Anal atresia |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
26
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
27
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
28
|
(HPO:0001080)
|
Biliary tract abnormality |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
29
|
(HPO:0000921)
|
Missing ribs |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
30
|
(HPO:0011331)
|
Hemifacial atrophy |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
31
|
(HPO:0001197)
|
Abnormality of prenatal development or birth |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
32
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
33
|
(HPO:0002250)
|
Abnormality of the large intestine |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
34
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
35
|
(HPO:0012581)
|
Solitary renal cyst |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
36
|
(HPO:0000168)
|
Abnormality of the gingiva |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
37
|
(HPO:0002577)
|
Abnormality of the stomach |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
38
|
(HPO:0000079)
|
Abnormality of the urinary system |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
39
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
40
|
(HPO:0012718)
|
Morphological abnormality of the gastrointestinal tract |
Very frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
41
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
42
|
(HPO:0000078)
|
Abnormality of the genital system |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
43
|
(HPO:0012638)
|
Abnormality of nervous system physiology |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|